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Current Pediatric Reviews Jun 2024The Prune-Belly (Eagle-Barrett) syndrome (PBS) is a congenital and genetically heterogeneous disease, more prevalent in males, defined by the clinical triad (1)...
The Prune-Belly (Eagle-Barrett) syndrome (PBS) is a congenital and genetically heterogeneous disease, more prevalent in males, defined by the clinical triad (1) deficiency of abdominal muscles, (2) bilateral cryptorchidism, and (3) urinary tract abnormalities. The abdomen of an infant with PBS has a typical appearance, similar to the aspect of a prune, which gives it its name. Although the etiology of this disorder is still unknown, numerous theories, mutations, and genetic disturbances have been proposed to explain the origin of PBS. Prognosis can differ a lot from one patient to another, since this condition has a wide spectrum of clinical presentation. Despite being a rare condition, the importance of PBS should not be underestimated, in the light of the potential of the disorder to lead to chronic kidney disease and other severe complications. In that regard, this review gathers the most up-to-date knowledge about the etiopathogenesis, clinical features, diagnosis, management and prognosis of PBS.
PubMed: 38879764
DOI: 10.2174/0115733963285237240524042142 -
Journal of Pediatric Urology Oct 2015Prune belly syndrome (PBS) extra-genitourinary (extra-GU) manifestations are serious comorbidities beyond the genitourinary (GU) anomalies of this disease. We... (Review)
Review
INTRODUCTION
Prune belly syndrome (PBS) extra-genitourinary (extra-GU) manifestations are serious comorbidities beyond the genitourinary (GU) anomalies of this disease. We hypothesized an underestimation of the reported frequency and understated impact on quality of life (QOL) of extra-GU comorbidities in PBS survivors beyond the newborn period. To assess this, the frequencies of extra-GU manifestations of PBS in a contemporary cohort of living patients were compared to compiled frequencies from published literature. Second, the impact of extra-GU PBS manifestations on patient/family QOL was assessed via a non-validated open-ended survey.
MATERIAL AND METHODS
From 2010 to 2013, PBS survivors were prospectively recruited locally or at three PBS Network National Conventions. The family/subject was asked to complete a detailed PBS questionnaire, non-validated QOL survey, and provide medical records for review. Clinical data were extracted from medical records for local patients. The frequencies of extra-GU manifestations were compared between the contemporary, living cohort and a published literature cohort derived from PubMed.
RESULTS AND DISCUSSION
Seven of 706 published studies met criteria for frequencies tabulation of extra-GU PBS manifestations. This largest reported living PBS patient cohort (n = 65) was 99% male with mean age 10 years (1 month-45 years). The living PBS cohort had a statistically significantly higher incidence of gastrointestinal (63%), orthopedic (65%), and cardiopulmonary (49%) diagnoses compared to the compiled published cohort (n = 204). Eleven PBS males and 32 family members completed the QOL survey. Of these, 47% listed at least one non-GU problem (i.e. lung disease, skeletal problems, constipation) as negatively affecting their QOL; 42% listed at least one GU problem (i.e. self-catheterization, recurrent UTIs) as negatively affecting their QOL; 56% reported musculoskeletal surgery and 21% reported gastrointestinal surgery/medication as positively impacting their QOL.
CONCLUSIONS
In this large contemporary series, surviving individuals with PBS had a significantly higher incidence of orthopedic, gastrointestinal, and cardiopulmonary diagnoses than previously reported in PBS publications. From the patient/family QOL perspective, non-GU PBS manifestations negatively impact their QOL and treatment of these non-GU conditions improves their lives. As urologic surgeons for these medically complex patients, it is extremely important to be aware of and prepare for the high incidence of non-GU PBS comorbidities directly impacting the medical and surgical treatment and QOL of PBS patients and their families.
Topics: Gastrointestinal Diseases; Global Health; Humans; Incidence; Lung Diseases; Male; Prune Belly Syndrome; Scoliosis
PubMed: 26231776
DOI: 10.1016/j.jpurol.2015.06.005 -
Lakartidningen Nov 2018
Topics: Female; Humans; Physical Therapy Modalities; Pregnancy; Pregnancy Complications; Prune Belly Syndrome; Rectus Abdominis; Tomography, X-Ray Computed
PubMed: 30457664
DOI: No ID Found -
Journal of Pediatric Urology Oct 2021Surgical management of children with Prune-belly syndrome (PBS) can be divided into three categories: urinary tract reconstruction, abdominal wall reconstruction, and... (Review)
Review
INTRODUCTION
Surgical management of children with Prune-belly syndrome (PBS) can be divided into three categories: urinary tract reconstruction, abdominal wall reconstruction, and orchidopexy. Adequate repair of the abdominal wall by abdominoplasty at an early age, allows an adequate aesthetic appearance, but also allows a correct development of walking, breathing, defecation and urination.
OBJECTIVE
To present a novel surgical technique for abdominal wall reconstruction, which combines plication with complete overlap of the fascia and neoumbilicoplasty with an island flap rotated on itself.
STUDY DESIGN
A retrospective review of the patients with PBS who underwent surgery in our center between 2009 and 2020. A new abdominoplasty technique was performed, which consists of plication with complete overlap of the fascia, as well as a neoumbilicoplasty with an island flap rotated on itself. The skin is then well freed from the rest of planes, and the plication is performed with complete overlapping of the muscle-aponeurotic plane from one side to the other. At this time, the interposition of some type of reinforcement material (mesh) may be required in the event of complete absence or insufficient presence of the fascia and muscle.
RESULTS
Abdominoplasty was performed in four patients. In all patients, bilateral orchidopexy was performed in the same surgical procedure for intra-abdominal testicles. The mean age of the patients at the time of surgery was 10,5 years and the average admission time was 4 days. There were no short-term or long-term complications. Average follow-up time was 7 years. All patients and their families are satisfied with the aesthetic result obtained.
DISCUSSSION
Abdominoplasty in patients with PBS in addition to aesthetic reconstruction, brings significant improvements to wandering, breathing, urination and defecation, improving the quality of life of the patient. Compared to the techniques described, the abdominoplasty we propose makes it possible to easily improve the abdominal wall support by means of meshes or synthetic devices if necessary and allows the evaluation and correction of cryptorchidism or other associated renal abnormalities in the same surgical act, as it allows full abdominal exposure. Likewise our modified abdominoplasty allows the creation of the new umbilicus in a more anatomical way, rectifying its natural position.
CONCLUSION
In our experience, this modified surgical technique for abdominal wall repair is a novel procedure in the PBS approach, easily reproducible, which provides good aesthetic results in our series of cases.
Topics: Abdominal Wall; Abdominoplasty; Child; Humans; Male; Prune Belly Syndrome; Quality of Life; Retrospective Studies
PubMed: 34376330
DOI: 10.1016/j.jpurol.2021.07.018 -
Special Care in Dentistry : Official... Jan 2023Prune belly syndrome (PBS), also known as Eagle-Barrett syndrome (EGBRS), is a rare congenital disease characterized by deficiency or absence of abdominal wall muscles,... (Review)
Review
BACKGROUND
Prune belly syndrome (PBS), also known as Eagle-Barrett syndrome (EGBRS), is a rare congenital disease characterized by deficiency or absence of abdominal wall muscles, urological abnormalities, and bilateral cryptorchidism.
TYPES OF STUDIES REVIEWED
A review of literature was done using four search engines (PubMed, Google Scholar, Scopus, Science Direct) and keywords (individually and in combinations): prune belly syndrome, PBS, Eagle-Barrett syndrome, dental manifestation, clinical manifestation, and psychological aspects. The search was run with no language restrictions and covered the 1965-2021 time period.
RESULTS
The search yielded a large number of articles. The vast majority were dealing with a variety of treatments. PBS is a multisystem disease with a variable spectrum ranging from mild cases to infant mortality. Comorbidities of PBS (63% gastrointestinal, 65% orthopedic, and 49% cardiopulmonary) present challenges for treatment. PBS affects quality of life of patients and caregivers. We selected and summarized published information that is relevant to oral health and dental care.
CONCLUSIONS AND PRACTICAL IMPLICATIONS
Providing information to dental practitioners will improve their understanding of PBS. It will help them to better treat patients with PBS and it will encourage more dental providers to welcome patients with PBS into their dental clinics.
Topics: Humans; Infant; Male; Dental Care; Dentists; Professional Role; Prune Belly Syndrome; Quality of Life
PubMed: 35526214
DOI: 10.1111/scd.12728 -
Taiwanese Journal of Obstetrics &... Jan 2024Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive... (Review)
Review
Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive uropathy, prune belly syndrome, cloacal anomalies, limb-body wall complex, amniotic band syndrome, anorectal malformations, VACTERL association (vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies and limb abnormalities) and fetal overgrowth syndrome such as Bechwith-Wiedemann syndrome and Sotos syndrome. This review provides an overview of chromosomal abnormalities associated with fetal megacystis which is useful for genetic counseling and fetal therapy at prenatal diagnosis of fetal megacystis.
Topics: Pregnancy; Infant, Newborn; Female; Humans; Diabetes, Gestational; Fetal Macrosomia; Abnormalities, Multiple; Chromosome Aberrations; Urinary Bladder; Duodenum; Fetal Diseases
PubMed: 38216262
DOI: 10.1016/j.tjog.2023.11.006 -
Paediatric Respiratory Reviews Jan 2015The abdominal wall is an integral component of the chest wall. Defects in the ventral abdominal wall alter respiratory mechanics and can impair diaphragm function.... (Review)
Review
The abdominal wall is an integral component of the chest wall. Defects in the ventral abdominal wall alter respiratory mechanics and can impair diaphragm function. Congenital abdominal wall defects also are associated with abnormalities in lung growth and development that lead to pulmonary hypoplasia, pulmonary hypertension, and alterations in thoracic cage formation. Although infants with ventral abdominal wall defects can experience life-threatening pulmonary complications, older children typically experience a more benign respiratory course. Studies of lung and chest wall function in older children and adolescents with congenital abdominal wall defects are few; such investigations could provide strategies for improved respiratory performance, avoidance of respiratory morbidity, and enhanced exercise ability for these children.
Topics: Abdominal Wall; Adolescent; Child; Child, Preschool; Gastroschisis; Hernia, Abdominal; Humans; Infant; Infant, Newborn; Lung; Lung Diseases; Respiratory Function Tests
PubMed: 25458796
DOI: 10.1016/j.prrv.2014.10.004 -
Prenatal Diagnosis Jan 2023
Topics: Humans; Prune Belly Syndrome; Lordosis
PubMed: 36367149
DOI: 10.1002/pd.6265 -
Le Mali Medical 2021To analyze the epidemiological, diagnostic, therapeutic and evolutionary aspects of cryptorchidism in Prune Belly syndrome.
PURPOSE
To analyze the epidemiological, diagnostic, therapeutic and evolutionary aspects of cryptorchidism in Prune Belly syndrome.
PATIENTS AND METHOD
This is a retrospective and descriptive study over an 11-year period involving 24 cases of children admitted for cryptorchidism that is part of Prune Belly syndrome in the paediatric surgery department of the Aristide Le Dantec University Hospital in Dakar. We were interested in epidemiological, diagnostic, therapeutic and evolutionary aspects.
RESULTS
The incidence of cryptorchidism in Prune Belly syndrome was 2.4 cases per year. The average age of discovery was 1 year and the age of testicular lowering was 20 months. The bilateral form predateed with 91.7% of cases. Simple orchidopexia was practiced in 50% of cases. An orchidopexia using the Fowler-Stephens technique in one time was practiced in 45.8% of cases. A right orchidectomy was needed in 4.2% of cases. Surgical procedures were simple in 47.8% of the lowered testicles. The most common complication was testicular atrophy noted primarily in the Fowler-Stephens technique in a single time.
CONCLUSION
Cryptorchidism in Prune Belly syndrome is most often bilateral and the testicle was frequently palpable. His diagnosis remains very late in our context. Given the number of testicular atrophies driven by the Fowler-Stephens technique in one time, it should be abandoned in favour of the Fowler-Stephens technique in two stages.
PubMed: 37973566
DOI: No ID Found -
Pediatric Health, Medicine and... 2019Prune belly syndrome (PBS) is a rare but morbid congenital disease, classically defined by a triad of cardinal features that includes cryptorchidism, urinary tract...
Prune belly syndrome (PBS) is a rare but morbid congenital disease, classically defined by a triad of cardinal features that includes cryptorchidism, urinary tract dilation and laxity of the abdominal wall musculature. Children often require numerous surgical interventions including bilateral orchidopexy as well as individually tailored urinary tract and abdominal wall reconstruction. Along with the classic features, patients with PBS often experience gastrointestinal, orthopedic, and cardiopulmonary comorbidities.
PubMed: 31496864
DOI: 10.2147/PHMT.S188014